Incidental Mutation 'R8003:Wdr41'
| ID |
616473 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wdr41
|
| Ensembl Gene |
ENSMUSG00000042015 |
| Gene Name |
WD repeat domain 41 |
| Synonyms |
MSTP048, B830029I03Rik |
| MMRRC Submission |
046043-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8003 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
95112852-95159822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 95149654 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 286
(A286E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129595
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056512]
[ENSMUST00000159647]
[ENSMUST00000160115]
[ENSMUST00000160801]
[ENSMUST00000167155]
[ENSMUST00000222995]
|
| AlphaFold |
Q3UDP0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000056512
|
| SMART Domains |
Protein: ENSMUSP00000055145
Gene: ENSMUSG00000042015
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
32 |
70 |
4.48e-2 |
SMART |
|
WD40
|
73 |
119 |
1.24e-4 |
SMART |
|
WD40
|
122 |
159 |
1.28e1 |
SMART |
|
WD40
|
211 |
249 |
2.86e0 |
SMART |
|
WD40
|
308 |
350 |
7.92e-3 |
SMART |
|
WD40
|
394 |
432 |
1.67e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000159647
AA Change: A286E
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000138501
Gene: ENSMUSG00000042015
AA Change: A286E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
32 |
70 |
4.48e-2 |
SMART |
|
WD40
|
73 |
119 |
1.24e-4 |
SMART |
|
WD40
|
122 |
159 |
1.28e1 |
SMART |
|
Blast:WD40
|
162 |
199 |
9e-6 |
BLAST |
|
internal_repeat_1
|
233 |
260 |
6.23e-8 |
PROSPERO |
|
internal_repeat_1
|
269 |
309 |
6.23e-8 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160115
AA Change: A424E
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000138543
Gene: ENSMUSG00000042015
AA Change: A424E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
32 |
70 |
4.48e-2 |
SMART |
|
WD40
|
73 |
119 |
1.24e-4 |
SMART |
|
WD40
|
122 |
159 |
1.28e1 |
SMART |
|
Blast:WD40
|
162 |
199 |
1e-5 |
BLAST |
|
internal_repeat_2
|
224 |
281 |
1.46e-11 |
PROSPERO |
|
internal_repeat_1
|
233 |
315 |
2.35e-20 |
PROSPERO |
|
internal_repeat_2
|
306 |
365 |
1.46e-11 |
PROSPERO |
|
internal_repeat_1
|
353 |
435 |
2.35e-20 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160801
|
| SMART Domains |
Protein: ENSMUSP00000124033
Gene: ENSMUSG00000042015
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
32 |
70 |
4.48e-2 |
SMART |
|
WD40
|
73 |
119 |
1.24e-4 |
SMART |
|
WD40
|
122 |
159 |
1.28e1 |
SMART |
|
WD40
|
211 |
249 |
2.86e0 |
SMART |
|
WD40
|
308 |
350 |
7.92e-3 |
SMART |
|
WD40
|
394 |
432 |
1.67e-1 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167155
AA Change: A286E
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129595
Gene: ENSMUSG00000042015
AA Change: A286E
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
32 |
70 |
4.48e-2 |
SMART |
|
WD40
|
73 |
119 |
1.24e-4 |
SMART |
|
WD40
|
122 |
159 |
1.28e1 |
SMART |
|
Blast:WD40
|
162 |
199 |
9e-6 |
BLAST |
|
internal_repeat_1
|
233 |
260 |
6.23e-8 |
PROSPERO |
|
internal_repeat_1
|
269 |
309 |
6.23e-8 |
PROSPERO |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222995
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein of unknown function, but which contains a WD40 domain consisting of six WD40 repeats. The WD40 domain is one of the most abundant protein domains in eukaryotes, and is found in proteins with widely varying cellular functions. However, proteins with this domain often provide a rigid scaffold for protein-protein interactions. [provided by RefSeq, Aug 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy4 |
A |
G |
14: 56,019,092 (GRCm39) |
V155A |
probably benign |
Het |
| Arfgef2 |
A |
G |
2: 166,695,208 (GRCm39) |
Y527C |
probably damaging |
Het |
| Brca1 |
C |
T |
11: 101,415,303 (GRCm39) |
G944R |
probably benign |
Het |
| C2cd2 |
A |
G |
16: 97,687,286 (GRCm39) |
|
probably null |
Het |
| Cass4 |
T |
C |
2: 172,269,879 (GRCm39) |
F654L |
unknown |
Het |
| Ccdc178 |
A |
T |
18: 21,977,944 (GRCm39) |
|
probably null |
Het |
| Cct4 |
T |
C |
11: 22,946,040 (GRCm39) |
|
probably null |
Het |
| Cish |
T |
C |
9: 107,174,227 (GRCm39) |
V5A |
possibly damaging |
Het |
| Col5a1 |
G |
A |
2: 27,848,340 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,703,455 (GRCm39) |
N3037K |
unknown |
Het |
| Csmd2 |
T |
A |
4: 128,432,980 (GRCm39) |
C3012* |
probably null |
Het |
| Dclk2 |
T |
C |
3: 86,700,608 (GRCm39) |
|
probably null |
Het |
| Dhx38 |
A |
T |
8: 110,282,772 (GRCm39) |
D631E |
probably damaging |
Het |
| Eif2ak2 |
C |
A |
17: 79,183,652 (GRCm39) |
A66S |
probably damaging |
Het |
| Ephx2 |
A |
G |
14: 66,361,782 (GRCm39) |
|
probably null |
Het |
| Fbxw10 |
T |
G |
11: 62,748,587 (GRCm39) |
C405G |
possibly damaging |
Het |
| Galnt13 |
G |
T |
2: 54,950,497 (GRCm39) |
G393* |
probably null |
Het |
| Gm5591 |
G |
T |
7: 38,219,183 (GRCm39) |
H563Q |
probably damaging |
Het |
| Gtf3c5 |
A |
G |
2: 28,459,373 (GRCm39) |
I394T |
probably benign |
Het |
| Hectd4 |
G |
A |
5: 121,477,581 (GRCm39) |
A2835T |
possibly damaging |
Het |
| Herc2 |
A |
G |
7: 55,818,652 (GRCm39) |
D2781G |
possibly damaging |
Het |
| Kmt2b |
G |
T |
7: 30,268,802 (GRCm39) |
H2642Q |
probably damaging |
Het |
| Lars1 |
A |
T |
18: 42,354,684 (GRCm39) |
D754E |
probably damaging |
Het |
| Lrpprc |
A |
C |
17: 85,059,745 (GRCm39) |
S690A |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,976,193 (GRCm39) |
T805A |
probably benign |
Het |
| Mthfd1l |
T |
G |
10: 3,934,147 (GRCm39) |
S160A |
probably benign |
Het |
| Mtmr6 |
G |
A |
14: 60,519,544 (GRCm39) |
|
probably null |
Het |
| Mybpc2 |
A |
T |
7: 44,158,488 (GRCm39) |
M698K |
probably damaging |
Het |
| Myh8 |
T |
A |
11: 67,190,586 (GRCm39) |
L1304M |
probably damaging |
Het |
| Mylip |
T |
A |
13: 45,557,947 (GRCm39) |
V117E |
probably benign |
Het |
| Npc1l1 |
T |
C |
11: 6,165,129 (GRCm39) |
Q1061R |
probably benign |
Het |
| Or12e13 |
A |
G |
2: 87,664,081 (GRCm39) |
R233G |
probably benign |
Het |
| Or5d37 |
A |
T |
2: 87,923,589 (GRCm39) |
Y230* |
probably null |
Het |
| Pkd2l2 |
G |
A |
18: 34,561,232 (GRCm39) |
M413I |
probably damaging |
Het |
| Plch2 |
C |
T |
4: 155,138,980 (GRCm39) |
G19D |
unknown |
Het |
| Pramel17 |
T |
C |
4: 101,693,130 (GRCm39) |
K290R |
probably benign |
Het |
| Psg22 |
A |
C |
7: 18,458,350 (GRCm39) |
Y347S |
probably damaging |
Het |
| Ptpre |
C |
A |
7: 135,270,765 (GRCm39) |
Q314K |
probably damaging |
Het |
| Rgs6 |
T |
C |
12: 83,032,144 (GRCm39) |
S54P |
probably damaging |
Het |
| Sbds |
C |
A |
5: 130,279,726 (GRCm39) |
V130F |
possibly damaging |
Het |
| Slc1a7 |
G |
A |
4: 107,869,473 (GRCm39) |
V513M |
probably benign |
Het |
| Slc24a2 |
A |
T |
4: 87,094,552 (GRCm39) |
D322E |
probably benign |
Het |
| Slc45a4 |
G |
T |
15: 73,457,162 (GRCm39) |
Y585* |
probably null |
Het |
| Slc7a4 |
A |
C |
16: 17,392,315 (GRCm39) |
V373G |
possibly damaging |
Het |
| Sulf1 |
G |
A |
1: 12,908,825 (GRCm39) |
V613M |
probably damaging |
Het |
| Syt1 |
T |
C |
10: 108,472,434 (GRCm39) |
D150G |
probably damaging |
Het |
| Tnpo3 |
C |
A |
6: 29,551,900 (GRCm39) |
V888F |
probably benign |
Het |
| Trim9 |
T |
C |
12: 70,393,608 (GRCm39) |
H112R |
probably benign |
Het |
| Vmn2r80 |
T |
C |
10: 78,984,711 (GRCm39) |
I21T |
probably benign |
Het |
| Wnt8b |
T |
A |
19: 44,500,396 (GRCm39) |
C328S |
probably damaging |
Het |
| Ybx3 |
A |
T |
6: 131,345,400 (GRCm39) |
Y324* |
probably null |
Het |
| Zmynd15 |
T |
A |
11: 70,351,767 (GRCm39) |
H124Q |
probably benign |
Het |
|
| Other mutations in Wdr41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02096:Wdr41
|
APN |
13 |
95,153,964 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02813:Wdr41
|
APN |
13 |
95,131,753 (GRCm39) |
splice site |
probably null |
|
|
gogi
|
UTSW |
13 |
95,151,725 (GRCm39) |
critical splice donor site |
probably null |
|
|
metallica
|
UTSW |
13 |
95,151,682 (GRCm39) |
nonsense |
probably null |
|
|
R0047:Wdr41
|
UTSW |
13 |
95,146,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0110:Wdr41
|
UTSW |
13 |
95,154,619 (GRCm39) |
unclassified |
probably benign |
|
|
R0243:Wdr41
|
UTSW |
13 |
95,153,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0537:Wdr41
|
UTSW |
13 |
95,131,813 (GRCm39) |
splice site |
probably benign |
|
|
R2025:Wdr41
|
UTSW |
13 |
95,155,456 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2116:Wdr41
|
UTSW |
13 |
95,151,537 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R3953:Wdr41
|
UTSW |
13 |
95,133,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4886:Wdr41
|
UTSW |
13 |
95,151,682 (GRCm39) |
nonsense |
probably null |
|
|
R5055:Wdr41
|
UTSW |
13 |
95,151,725 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5266:Wdr41
|
UTSW |
13 |
95,131,759 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5276:Wdr41
|
UTSW |
13 |
95,153,958 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5738:Wdr41
|
UTSW |
13 |
95,114,996 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R5957:Wdr41
|
UTSW |
13 |
95,133,695 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6682:Wdr41
|
UTSW |
13 |
95,149,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6815:Wdr41
|
UTSW |
13 |
95,154,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6817:Wdr41
|
UTSW |
13 |
95,133,812 (GRCm39) |
splice site |
probably null |
|
|
R7582:Wdr41
|
UTSW |
13 |
95,142,275 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7832:Wdr41
|
UTSW |
13 |
95,151,701 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8076:Wdr41
|
UTSW |
13 |
95,153,838 (GRCm39) |
missense |
probably benign |
|
|
R8796:Wdr41
|
UTSW |
13 |
95,151,575 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8919:Wdr41
|
UTSW |
13 |
95,151,620 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9715:Wdr41
|
UTSW |
13 |
95,145,373 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Wdr41
|
UTSW |
13 |
95,151,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATAGGCTCTGTGCTGACCAC -3'
(R):5'- ATTGTAACTCTGCGGAAGTTTTGAG -3'
Sequencing Primer
(F):5'- ACAGGCTCTGTGCTGACCATG -3'
(R):5'- GAACTTCAGCAGTACTAATCTTTCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation